Variant report

Variant	nsv6614
Chromosome Location	chr9:94571349-94610085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:94597584..94599500-chr9:94607793..94610758,2	K562	blood:
2	chr9:94580430..94582759-chr9:94584118..94590023,5	K562	blood:
3	chr9:94591392..94592961-chr9:94594858..94596367,2	K562	blood:
4	chr9:94575900..94578539-chr9:94580415..94582024,2	MCF-7	breast:
5	chr9:94576028..94578598-chr9:94581934..94584307,4	K562	blood:
6	chr9:94600587..94602440-chr9:94606824..94609770,3	K562	blood:
7	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
8	chr9:94566439..94568761-chr9:94577681..94581250,3	MCF-7	breast:
9	chr9:94596693..94598646-chr9:94599586..94601943,2	K562	blood:
10	chr9:94561614..94563695-chr9:94575590..94578350,2	K562	blood:
11	chr9:94599805..94602377-chr9:94607458..94609463,2	K562	blood:
12	chr9:94599805..94602377-chr9:94607458..94609463,2	K562	blood:
13	chr9:94596693..94598646-chr9:94599586..94601943,2	K562	blood:
14	chr9:94596679..94601637-chr9:94602257..94606458,6	K562	blood:
15	chr9:94580430..94582759-chr9:94584118..94590023,5	K562	blood:
16	chr9:94592841..94594519-chr9:94668983..94670504,2	K562	blood:
17	chr9:94597584..94599500-chr9:94607793..94610758,2	K562	blood:
18	chr9:94568416..94571660-chr9:94580532..94583534,3	K562	blood:
19	chr9:94572281..94574995-chr9:94578094..94579689,2	MCF-7	breast:
20	chr9:94584589..94586242-chr9:94594324..94596965,2	K562	blood:
21	chr9:94580430..94582585-chr9:94584118..94590050,5	K562	blood:
22	chr9:94586540..94588666-chr9:94592596..94596432,3	MCF-7	breast:
23	chr9:94579358..94582251-chr9:94586460..94588565,3	MCF-7	breast:
24	chr9:94569574..94571873-chr9:94577542..94579809,2	K562	blood:
25	chr9:94580430..94582585-chr9:94584118..94590050,5	K562	blood:
26	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
27	chr9:94572281..94574995-chr9:94578094..94579689,2	MCF-7	breast:
28	chr9:94579358..94582251-chr9:94586460..94588565,3	MCF-7	breast:
29	chr9:94597146..94598805-chr9:94600443..94602240,2	K562	blood:
30	chr9:94568416..94571660-chr9:94580532..94583534,3	K562	blood:
31	chr9:94600991..94603811-chr9:94624286..94626763,2	K562	blood:
32	chr9:94588743..94592515-chr9:94595352..94598489,3	MCF-7	breast:
33	chr9:94584589..94586242-chr9:94594324..94596965,2	K562	blood:
34	chr9:94575900..94578539-chr9:94580415..94582024,2	MCF-7	breast:
35	chr9:94591392..94592961-chr9:94594858..94596367,2	K562	blood:
36	chr9:94592183..94593862-chr9:94599250..94601160,2	K562	blood:
37	chr9:94602912..94604839-chr9:94617568..94620449,2	MCF-7	breast:
38	chr9:94576028..94578598-chr9:94581934..94584307,4	K562	blood:
39	chr9:94569574..94571873-chr9:94577542..94579809,2	K562	blood:
40	chr9:94602829..94605124-chr9:94607630..94609855,2	MCF-7	breast:
41	chr9:94602829..94604983-chr9:94613867..94616038,2	K562	blood:
42	chr9:94549725..94552292-chr9:94608057..94610041,2	K562	blood:
43	chr9:94600587..94602440-chr9:94606824..94609770,3	K562	blood:
44	chr9:94588743..94592515-chr9:94595352..94598489,3	MCF-7	breast:
45	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:
46	chr9:94602829..94605124-chr9:94607630..94609855,2	MCF-7	breast:
47	chr9:94586540..94588666-chr9:94592596..94596432,3	MCF-7	breast:
48	chr9:94592183..94593862-chr9:94599250..94601160,2	K562	blood:
49	chr9:94603914..94606181-chr9:94621038..94623335,2	MCF-7	breast:
50	chr9:94570310..94572963-chr9:94575340..94577393,3	K562	blood:

No data

Extended variants
information (count: 1599 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1599 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544351757	chr9:94571372-94571373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562652373	chr9:94571438-94571439	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112111257	chr9:94571446-94571447	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545048937	chr9:94571448-94571449	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10992118	chr9:94571449-94571450	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527815954	chr9:94571534-94571535	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113456304	chr9:94571547-94571548	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114314417	chr9:94571567-94571568	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560516089	chr9:94571573-94571574	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377331706	chr9:94571610-94571611	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs570824824	chr9:94571670-94571671	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs117869062	chr9:94571715-94571716	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs145675556	chr9:94571732-94571733	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs201939946	chr9:94571734-94571735	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs76243718	chr9:94571782-94571783	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs149973653	chr9:94571800-94571801	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs572016429	chr9:94571888-94571889	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs187347032	chr9:94571911-94571912	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs532831438	chr9:94571918-94571919	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs192296882	chr9:94571953-94571954	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs551428721	chr9:94571975-94571976	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs566488270	chr9:94571990-94571991	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs533750432	chr9:94571991-94571992	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs555170324	chr9:94571992-94571993	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs369978679	chr9:94572014-94572015	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs567317526	chr9:94572049-94572050	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs184668468	chr9:94572076-94572077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs189988080	chr9:94572115-94572116	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs577546336	chr9:94572154-94572155	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs543629456	chr9:94572197-94572198	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs544888138	chr9:94572209-94572210	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs73651531	chr9:94572210-94572211	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575093295	chr9:94572225-94572226	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs7858240	chr9:94572240-94572241	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192733456	chr9:94572252-94572253	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs557684833	chr9:94572267-94572268	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs4744104	chr9:94572290-94572291	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10992119	chr9:94572312-94572313	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2841693	chr9:94572339-94572340	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs528049294	chr9:94572352-94572353	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs561093248	chr9:94572364-94572365	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs184329956	chr9:94572372-94572373	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs548129185	chr9:94572397-94572398	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs566327715	chr9:94572399-94572400	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs35707988	chr9:94572448-94572449	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs58173711	chr9:94572450-94572451	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs541355187	chr9:94572453-94572454	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs57308170	chr9:94572454-94572455	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188288829	chr9:94572460-94572461	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs376086590	chr9:94572471-94572472	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
overgrowth syndrome	16570072	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1117 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94562000-94575400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:94562000-94579400	Weak transcription	Gastric	stomach
3	chr9:94565200-94571800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:94565200-94573000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:94565400-94575200	Enhancers	Stomach Smooth Muscle	stomach
6	chr9:94566600-94571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:94566600-94571800	Weak transcription	Fetal Intestine Small	intestine
8	chr9:94566800-94571600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:94567000-94571400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:94567000-94571400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:94567000-94571600	Weak transcription	NHDF-Ad	bronchial
12	chr9:94567200-94571600	Weak transcription	Spleen	Spleen
13	chr9:94567600-94575400	Weak transcription	Ovary	ovary
14	chr9:94567800-94571600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:94567800-94571600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:94567800-94571600	Weak transcription	Esophagus	oesophagus
17	chr9:94567800-94571800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:94567800-94571800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:94568000-94573000	Weak transcription	Right Atrium	heart
20	chr9:94568400-94571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:94568600-94573200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:94569200-94572400	Enhancers	Colon Smooth Muscle	Colon
23	chr9:94570000-94571800	Weak transcription	Fetal Stomach	stomach
24	chr9:94570200-94572600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:94570200-94581200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:94570400-94572000	Weak transcription	Fetal Lung	lung
27	chr9:94570600-94571600	Weak transcription	Fetal Heart	heart
28	chr9:94570600-94571600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:94570600-94571800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr9:94571400-94571600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:94571400-94572200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:94571400-94572200	Enhancers	NH-A	brain
33	chr9:94571400-94572200	Flanking Active TSS	Osteobl	bone
34	chr9:94571400-94572400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:94571400-94572400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:94571400-94572400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:94571400-94572600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:94571400-94572600	Enhancers	HSMM	muscle
39	chr9:94571600-94572000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:94571600-94572000	Enhancers	Spleen	Spleen
41	chr9:94571600-94572000	Enhancers	NHLF	lung
42	chr9:94571600-94572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:94571600-94572200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:94571600-94572200	Enhancers	Esophagus	oesophagus
45	chr9:94571600-94572400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:94571600-94572400	Enhancers	Rectal Smooth Muscle	rectum
47	chr9:94571600-94572400	Enhancers	HMEC	breast
48	chr9:94571600-94572400	Enhancers	NHDF-Ad	bronchial
49	chr9:94571600-94572600	Enhancers	HSMMtube	muscle
50	chr9:94571600-94573200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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